Varaico: Literature-Extracted Genetic Variants

Gene:MAGED2
Variant:p.R76W

MAGED2

65 papers

RefSeq Summary

This gene is a member of the MAGED gene family. The MAGED genes are clustered on chromosome Xp11. This gene is located in Xp11.2, a hot spot for X-linked intellectual disability (XLID). Mutations in t...

Pfam Domains

MAGEaa 286–454UCSCMAGE homology domain

Gene Aliases

HGNC Name

MAGE family member D2

HGNC Alias Symbols

JCL-1; BCG1; 11B6; MAGE-D2; HCA10; MGC8386

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_177433.3
p.R76W
c.226C>T
Surrounding Variants
1 paper
NM_177433.3
p.S84L
c.251C>T
2 papers
NM_177433.3
p.S84S
c.252A>G
1 paper
NM_177433.3
p.A66A
c.198C>T
1 paper
NM_177433.3
p.A60V
c.179C>T
3 papers
NM_177433.3
p.T92insFs
c.274dupA
2 papers
NM_177433.3
p.T92fs
c.274_275fs
1 paper
NM_177433.3
p.K59N
c.177A>T
1 paper
NM_177433.3
p.T92N
c.275C>A
1 paper
NM_177433.3
p.Q93*
c.277C>T
1 paper
NM_177433.3
p.L95L
c.285G>A
1 paper
NM_177433.3
p.A103V
c.308C>T
1 paper
NM_177433.3
p.K44E
c.130A>G
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